Role of the dysmorphologic evaluation in the child with developmental delay.
This article focuses on the dysmorphologic evaluation of the child who has developmental delay or cognitive impairment. Attention is focused on minor anomalies, because those are often considered to be the dysmorphic features that are the component manifestations of a particular syndrome. This article provides a brief discussion of craniofacial, skin, and limb anomalies (which are more likely to be noted not only by clinicians but also by allied health workers) and notes which features are particularly helpful clues to common syndromes, metabolic disorders, or autism syndromes.
Toriello
Helga V
HV
Clinical Genetics, Spectrum Health, 100 Michigan Street, Grand Rapids, MI 49503, USA. helga.toriello@spectrum-health.org
D049628:Body Size; D002658:Developmental Disabilities / Q000175:diagnosis* / Q000209:etiology / Q000473:pathology; D019066:Facies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000175:diagnosis* / Q000209:etiology / Q000473:pathology; D009139:Musculoskeletal Abnormalities / Q000473:pathology; D012868:Skin Abnormalities / Q000473:pathology